Canonical Allele Identifier: CA515382741

Gene: SBF1

Linked Data

• ClinVar Variation Id: 1651725
• ClinVar RCV Id: RCV002155839
• dbSNP Id: rs1205582390
• gnomAD v3: 22-50454739-G-A
• gnomAD v4: 22-50454739-G-A
• MyVariant Identifiers: chr22:g.50893168G>A (hg19) ; chr22:g.50454739G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454739G>A , CM000684.2:g.50454739G>A	GRCh38
NC_000022.10:g.50893168G>A , CM000684.1:g.50893168G>A	GRCh37
NC_000022.9:g.49240034G>A	NCBI36
NG_041810.1:g.25333C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4738C>T	ENSP00000252027.8:p.Leu1580=
ENST00000418590.4:c.445-33C>T	ENSP00000401538.2:n.445-33C>T
ENST00000470434.2:n.1219C>T
ENST00000684986.1:c.4819C>T	ENSP00000509117.1:p.Leu1607=
ENST00000685180.1:n.2488+5795C>T
ENST00000685390.1:n.2781-14C>T
ENST00000685411.1:n.566C>T
ENST00000685592.1:c.1050C>T
ENST00000685809.1:c.4729C>T	ENSP00000508863.1:p.Leu1577=
ENST00000686191.1:n.4016C>T
ENST00000686222.1:c.*4238C>T	ENSP00000508737.1:n.*4238C>T
ENST00000686321.1:c.912C>T
ENST00000686427.1:c.*1751C>T	ENSP00000510379.1:n.*1751C>T
ENST00000686758.1:n.2630C>T
ENST00000686801.1:c.4804C>T	ENSP00000509915.1:p.Leu1602=
ENST00000686826.1:n.1135C>T
ENST00000687016.1:c.4717C>T	ENSP00000509074.1:p.Leu1573=
ENST00000687704.1:c.*2612C>T	ENSP00000510454.1:n.*2612C>T
ENST00000688066.1:c.4816C>T	ENSP00000510782.1:p.Leu1606=
ENST00000688124.1:c.*3731-14C>T	ENSP00000510645.1:n.*3731-14C>T
ENST00000688848.1:c.*4160C>T	ENSP00000509419.1:n.*4160C>T
ENST00000688985.1:c.1817C>T	ENSP00000510477.1:n.1817C>T
ENST00000689129.1:c.4741C>T	ENSP00000510414.1:p.Leu1581=
ENST00000689177.1:n.6088C>T
ENST00000689849.1:c.912C>T
ENST00000689981.1:c.4816C>T	ENSP00000509035.1:p.Leu1606=
ENST00000690369.1:n.4834C>T
ENST00000690590.1:n.1863C>T
ENST00000690990.1:c.4810C>T	ENSP00000510461.1:p.Leu1604=
ENST00000691233.1:c.4735C>T	ENSP00000509215.1:p.Leu1579=
ENST00000691306.1:c.897C>T
ENST00000691345.1:n.2302+1477C>T
ENST00000691792.1:c.4804C>T	ENSP00000509911.1:p.Leu1602=
ENST00000691959.1:n.5535C>T
ENST00000692844.1:n.1900C>T
ENST00000692946.1:c.912C>T
ENST00000693052.1:c.4834C>T	ENSP00000509558.1:p.Leu1612=
ENST00000693289.1:n.1975C>T
ENST00000693440.1:c.4813C>T	ENSP00000509462.1:p.Leu1605=
ENST00000693499.1:n.5812C>T
ENST00000693591.1:n.3624C>T
ENST00000380817.8:c.4816C>T MANE Select	ENSP00000370196.2:p.Leu1606=
ENST00000348911.10:c.4741C>T	ENSP00000252027.7:p.Leu1581=
ENST00000380817.7:c.4816C>T	ENSP00000370196.2:p.Leu1606=
ENST00000418590.3:c.413-33C>T
ENST00000470434.1:n.957C>T
NM_002972.3:c.4816C>T	NP_002963.2:p.Leu1606=
XM_005261931.1:c.4819C>T	XP_005261988.1:p.Leu1607=
XM_005261935.1:c.4738C>T	XP_005261992.1:p.Leu1580=
XM_011530707.1:c.4918C>T	XP_011529009.1:p.Leu1640=
XM_011530708.1:c.4870C>T	XP_011529010.1:p.Leu1624=
XM_011530709.1:c.4846C>T	XP_011529011.1:p.Leu1616=
XM_011530710.1:c.4843C>T	XP_011529012.1:p.Leu1615=
XM_011530711.1:c.4843C>T	XP_011529013.1:p.Leu1615=
XR_938344.1:n.4936C>T
NM_001365819.1:c.4741C>T	NP_001352748.1:p.Leu1581=
XM_005261935.2:c.4738C>T	XP_005261992.1:p.Leu1580=
XM_011530709.2:c.4846C>T	XP_011529011.1:p.Leu1616=
XM_011530710.2:c.4843C>T	XP_011529012.1:p.Leu1615=
XM_017028905.2:c.4768C>T	XP_016884394.1:p.Leu1590=
NM_002972.4:c.4816C>T MANE Select	NP_002963.2:p.Leu1606=